Characterization of a diverse Frontotemporal Dementia cohort, enriched for Caribbean Hispanic patients.

AbstractBackgroundThe vast majority of biomedical data currently available for any disease is derived from studies in non‐Hispanic white (NHW) populations. Specifically, clinical information, genetic factors as well as biomarkers for frontotemporal dementia (FTD) have been studied predominantly in those NHW populations. To increase representation in biomedical research, we set out to enroll and characterize a diverse FTD patient cohort enriched for Caribbean Hispanic patients.MethodOur current cohort consists of 89 FTD patients (30% NHW, 67% Hispanic), with continuing enrollment from the University of Miami Hospital Neurology Department in Miami, FL and the Caribbean Center for the Study of Memory and Cognition in San Juan, PR. All patients were evaluated using NACC approved Uniform DataSet (UDS) or equivalent in their preferred language. For ∼65% of the cohort we also completed the NACC FTD module forms. We generated genotyping data (Illumina GDA+Neurobooster array) as well as whole genome sequencing and plasma biomarker data (Quanterix Simoa Neuroplex‐3; Ab40, Ab42, and total tau) for a subset of the cohort.ResultInitial genetic analyses showed none of the Hispanic patients are carriers of known FTD mutations originally identified in NHW patients, including the C9orf72 repeat expansion and reported pathogenic variants in MAPT or GRN. We did not identify a significant difference in age‐at‐onset or Clinical Dementia Rating scores at time of enrollment between NHW and Hispanic patients. Additionally, biomarker data on Aβ40/Aβ42 ratio and total tau levels in a subset of 22 FTD patients (∼12/10 Hispanic/NHW) did not show significantly different levels between patients of both ethnicities.ConclusionGenetic analyses of FTD in underrepresented population groups is necessary as genetic information from research in NHW is not always generalizable across race/ethnicity. We are currently working to expand our efforts to include identification of novel genetic risk factors for FTD in the Hispanic patients using whole genome sequencing, full evaluation of the Neuroplex as well as p‐tau181 and NfL biomarkers in the complete cohort and comparison of clinical presentations between ethnicities. The biomedical characterization of FTD across race/ethnicity will help the understanding of disease mechanisms in all patients ultimately preventing further health disparities.